ClinVar

NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 93997876 - 93997883 (on Assembly GRCh38)
• Chr1: 94463432 - 94463439 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)

HGVS:

• NC_000001.11:g.93997879_93997886del
• NG_009073.1:g.128267_128274del
• NG_009073.2:g.128265_128272del
• NM_000350.3:c.6707_6714delMANE SELECT
• NM_001425324.1:c.6482_6489delCAGTCACA
• NP_000341.2:p.Val2236fs
• NP_001412253.1:p.Val2162Aspfs
• NC_000001.10:g.94463435_94463442del
• NM_000350.2:c.6707_6714delTCACACAG

This HGVS expression did not pass validation

Protein change:

V2236fs

Links:

dbSNP: rs62646877

NCBI 1000 Genomes Browser:

rs62646877

Molecular consequence:

• NM_000350.3:c.6707_6714del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001425324.1:c.6482_6489delCAGTCACA - frameshift variant - [Sequence Ontology: SO:0001589]